Varaico: Literature-Extracted Genetic Variants

Gene:UBA1
Variant:p.M41R
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UBA1

NM_003334.4:p.M41R

Associated Papers

Rapid clinical deployment of UBA1 testing in patients with VEXAS syndrome.

Wadsworth PA et al.

American Journal of Clinical Pathology, 2025

40418703 (PubMed )
Supplement: aqaf051_suppl_supplementary_material.pdf

Promise of Jak Inhibition in the Management of VEXAS, Case Report with Review of the Literature.

Alnahas Z et al.

Open Access Rheumatology : Research and Reviews, 2025

Clinical characteristics, disease trajectories and management of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a systematic review.

Kouranloo K et al.

Rheumatology International, 2024

UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review.

Shaukat F et al.

Modern Rheumatology Case Reports, 2022

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